NM_016938.5(EFEMP2):c.490+16A>G AND Cutis laxa, autosomal recessive, type 1B
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002856989.3
Allele description [Variation Report for NM_016938.5(EFEMP2):c.490+16A>G]
NM_016938.5(EFEMP2):c.490+16A>G
Condition(s)
-
Homo sapiens unk like zinc finger (UNKL), transcript variant 5, mRNA
Homo sapiens unk like zinc finger (UNKL), transcript variant 5, mRNAgi|1635577158|ref|NM_001276414.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024